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Cited by 401

The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

Open access
Spanish Scleroderma Group, Radstake, Timothy R D J, Gorlova, Olga, Rueda, Blanca, Martin, Jose-Ezequiel, Alizadeh, Behrooz Z, Palomino-Morales, Rogelio, Coenen, Marieke J, Vonk, Madelon C, Voskuyl, Alexandre E, Schuerwegh, Annemie J, Broen, Jasper C, van Riel, Piet L C M, van 't Slot, Ruben, Italiaander, Annet, Ophoff, Roel A, Riemekasten, Gabriela, Hunzelmann, Nico, Simeon, Carmen P, Ortego-Centeno, Norberto, González-Gay, Miguel A, González-Escribano, María F, Airo, Paolo, van Laar, Jaap, Herrick, Ariane, Worthington, Jane, Hesselstrand, Roger, Smith, Vanessa, de Keyser, Filip, Houssiau, Fredric, Chee, Meng May, Madhok, Rajan, Shiels, Paul, Westhovens, Rene, Kreuter, Alexander, Kiener, Hans, de Baere, Elfride, Witte, Torsten, Padykov, Leonid, Klareskog, Lars, Beretta, Lorenzo, Scorza, Rafaella, Lie, Benedicte A, Hoffmann-Vold, Anna-Maria, Carreira, Patricia, Varga, John, Hinchcliff, Monique, Gregersen, Peter K, Lee, Annette T, Ying, Jun, Han, Younghun, Weng, Shih-Feng, Amos, Christopher I, Wigley, Fredrick M, Hummers, Laura, Nelson, J Lee, Agarwal, Sandeep K, Assassi, Shervin, Gourh, Pravitt, Tan, Filemon K, Koeleman, Bobby P C, Arnett, Frank C, Martin, Javier, Mayes, Maureen D·2010·Nature Genetics
DOI 10.1038/ng.565
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Abstract

Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. To identify new SSc susceptibility loci, we conducted the first genome-wide association study in a population of European ancestry including a total of 2,296 individuals with SSc and 5,171 controls. Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22–23, rs2056626, P = 2.09 × 10−7 in the discovery samples, P = 3.39 × 10−9 in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 × 10−18), IRF5 (P = 1.86 × 10−13) and STAT4 (P = 3.37 × 10−9) gene regions as SSc genetic risk factors.

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Research works printed but not linked: 20

  1. Gabrielli, A., Avvedimento, E.V. & Krieg, T. Scleroderma. N. Engl. J. Med. 360, 1989–2003 (2009). · DOI
  2. Jimenez, S.A. & Derk, C.T. Following the molecular pathways toward an understanding of the pathogenesis of systemic sclerosis. Ann. Intern. Med. 140, 37–50 (2004). · DOI
  3. Agarwal, S.K., Tan, F.K. & Arnett, F.C. Genetics and genomic studies in scleroderma (systemic sclerosis). Rheum. Dis. Clin. North Am. 34, 17–40 (2008). · DOI
  4. Arnett, F.C. et al. Major Histocompatibility Complex (MHC) class II alleles, haplotypes, and epitopes which confer susceptibility or protection in the fibrosing autoimmune disease systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls. Ann. Rheum. Dis. published online (12 July 2009). · DOI
  5. Rueda, B. et al. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Hum. Mol. Genet. 18, 2071–2077 (2009). · DOI
  6. Tsuchiya, N. et al. Association of STAT4 polymorphism with systemic sclerosis in a Japanese population. Ann. Rheum. Dis. 68, 1375–1376 (2009). · DOI
  7. Ito, I. et al. Association of a functional polymorphism in the IRF5 region with systemic sclerosis in a Japanese population. Arthritis Rheum. 60, 1845–1850 (2009). · DOI
  8. Dieudé, P. et al. Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. Arthritis Rheum. 60, 225–233 (2009). · DOI
  9. Gregersen, P.K. & Olsson, L.M. Recent advances in the genetics of autoimmune disease. Annu. Rev. Immunol. 27, 363–391 (2009). · DOI · Paper page
  10. Hunter, D.J. et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat. Genet. 39, 870–874 (2007). · DOI · Paper page
  11. Yeager, M. et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat. Genet. 39, 645–649 (2007). · DOI · Paper page
  12. Krawczak, M. et al. PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships. Community Genet. 9, 55–61 (2006).
  13. Call, M.E. & Wucherpfennig, K.W. Molecular mechanisms for the assembly of the T cell receptor-CD3 complex. Mol. Immunol. 40, 1295–1305 (2004). · DOI
  14. Krishnan, S. et al. Increased caspase-3 expression and activity contribute to reduced CD3zeta expression in systemic lupus erythematosus T cells. J. Immunol. 175, 3417–3423 (2005). · DOI
  15. Krishnan, S. et al. Generation and biochemical analysis of human effector CD4 T cells: alterations in tyrosine phosphorylation and loss of CD3ζ expression. Blood 97, 3851–3859 (2001). · DOI
  16. Krishnan, S., Warke, V.G., Nambiar, M.P., Tsokos, G.C. & Farber, D.L. The FcR gamma subunit and Syk kinase replace the CD3 zeta-chain and ZAP-70 kinase in the TCR signaling complex of human effector CD4 T cells. J. Immunol. 170, 4189–4195 (2003). · DOI
  17. Gorman, C.L. et al. Polymorphisms in the CD3Z gene influence TCRzeta expression in systemic lupus erythematosus patients and healthy controls. J. Immunol. 180, 1060–1070 (2008). · DOI
  18. Warchol, T. et al. The CD3Z 844 T>A polymorphism within the 3′-UTR of CD3Z confers increased risk of incidence of systemic lupus erythematosus. Tissue Antigens 74, 68–72 (2009). · DOI
  19. Gourh, P. et al. Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis. Arthritis Rheum. 54, 3945–3953 (2006). · DOI
  20. Tian, C. et al. European population genetic substructure: further definition of ancestry informative markers for distinguishing among diverse European ethnic groups. Mol. Med. 15, 371–383 (2009). · DOI

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Metadata

Authors
Spanish Scleroderma Group, Radstake, T. R. D. J., Gorlova, O., Rueda, B., Martin, J.-E., Alizadeh, B. Z., Palomino-Morales, R., Coenen, M. J., Vonk, M. C., Voskuyl, A. E., Schuerwegh, A. J., Broen, J. C., van Riel, P. L. C. M., van 't Slot, R., Italiaander, A., Ophoff, R. A., Riemekasten, G., Hunzelmann, N., Simeon, C. P., Ortego-Centeno, N., González-Gay, M. A., González-Escribano, M. F., Airo, P., van Laar, J., Herrick, A., Worthington, J., Hesselstrand, R., Smith, V., de Keyser, F., Houssiau, F., Chee, M. M., Madhok, R., Shiels, P., Westhovens, R., Kreuter, A., Kiener, H., de Baere, E., Witte, T., Padykov, L., Klareskog, L., Beretta, L., Scorza, R., Lie, B. A., Hoffmann-Vold, A.-M., Carreira, P., Varga, J., Hinchcliff, M., Gregersen, P. K., Lee, A. T., Ying, J., Han, Y., Weng, S.-F., Amos, C. I., Wigley, F. M., Hummers, L., Nelson, J. L., Agarwal, S. K., Assassi, S., Gourh, P., Tan, F. K., Koeleman, B. P. C., Arnett, F. C., Martin, J., & Mayes, M. D.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2010-04-11
Volume
42
Issue
5
Pages
426-429
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.565
OpenAlex
W2116107710
Cited by
401
References
3
FWCI
25.58
Type
journal article
Language
en
Update notices
erratum (2011-04-27)
Open access
green
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